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Plectin ( PLEC )-Related Intermediate Epidermolysis Bullosa Simplex without Extracutaneous Involvement with Response to Dapsone. [PDF]
Indian Dermatol Online JBiswal A +4 more
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Nature Reviews Disease Primers, 2020
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. A broad phenotypic spectrum has been described, with potentially severe extracutaneous manifestations, morbidity and mortality.
Bardhan, Ajoy +12 more
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Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. A broad phenotypic spectrum has been described, with potentially severe extracutaneous manifestations, morbidity and mortality.
Bardhan, Ajoy +12 more
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Oral Surgery, Oral Medicine, Oral Pathology, 1989
During the last 10 years, there has been considerable progress in the knowledge of epidermolysis bullosa, which has led to recognition of at least 18 different varieties. This review article attempts to classify these varieties and to emphasize the orodental findings in patients with epidermolysis bullosa.
H O, Sedano, R J, Gorlin
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During the last 10 years, there has been considerable progress in the knowledge of epidermolysis bullosa, which has led to recognition of at least 18 different varieties. This review article attempts to classify these varieties and to emphasize the orodental findings in patients with epidermolysis bullosa.
H O, Sedano, R J, Gorlin
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British Journal of Hospital Medicine, 2006
Over the last decade, defining the molecular pathology of the inherited blistering condition, epidermolysis bullosa, has led to more accurate diagnoses, better genetic counselling, the feasibility of DNA-based prenatal diagnosis, and the possibility of newer forms of treatment, including somatic gene therapy.
McGrath, J A, Mellerio, J E
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Over the last decade, defining the molecular pathology of the inherited blistering condition, epidermolysis bullosa, has led to more accurate diagnoses, better genetic counselling, the feasibility of DNA-based prenatal diagnosis, and the possibility of newer forms of treatment, including somatic gene therapy.
McGrath, J A, Mellerio, J E
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Annual Review of Medicine, 1993
Epidermolysis bullosa is a group of genetically determined diseases characterized by abnormal fragility of the skin and mucosa. In this chapter, we review current thinking about classification, pathogenesis, and molecular genetics, and we discuss management guidelines.
A N, Lin, D M, Carter
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Epidermolysis bullosa is a group of genetically determined diseases characterized by abnormal fragility of the skin and mucosa. In this chapter, we review current thinking about classification, pathogenesis, and molecular genetics, and we discuss management guidelines.
A N, Lin, D M, Carter
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Inherited epidermolysis bullosa
Arkhiv patologii, 2018To summarize an update on epidermolysis bullosa as a polymorphic group of inherited diseases with a failure of epidermal-dermal integrity. Emphasis is placed on the role of transmission electron microscopy in diagnosis and search directions for new types of the abnormality and its molecular markers.
S G, Lykova +5 more
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Pretibial epidermolysis bullosa
International Journal of Dermatology, 1999A 37‐year‐old white man with a history of essential arterial hypertension and idiopathic thrombocytopenic purpura (for the latter disorder, oral corticosteroids had been administered successfully), was first examined in our department in June 1997. He had a persistent, pruriginous eruption on the pretibial regions which had been present since the age ...
L, Soriano +3 more
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Dermatologic Clinics, 2010
Epidermolysis bullosa (EB) nevi are large, eruptive, asymmetrical, often irregularly pigmented melanocytic lesions. Such nevi may give rise to small satellite nevi surrounding the primary nevus, and thus frequently manifest clinical features suggestive of melanoma. They usually arise in sites of previous bullae or erosions.
Christoph Michael, Lanschuetzer +3 more
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Epidermolysis bullosa (EB) nevi are large, eruptive, asymmetrical, often irregularly pigmented melanocytic lesions. Such nevi may give rise to small satellite nevi surrounding the primary nevus, and thus frequently manifest clinical features suggestive of melanoma. They usually arise in sites of previous bullae or erosions.
Christoph Michael, Lanschuetzer +3 more
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Epidermolysis Bullosa Pruriginosa
Dermatology, 1997Epidermolysis bullosa (EB) pruriginosa is a rare clinical subset of dystrophic EB, characterized by marked itching and presence of prurigo-like or lichenoid features. In order to further delineate the phenotype and understand the pathogenesis of this disorder, the clinical, histological and ultrastructural findings of a 19-year-old patient presenting a
S, Cambiaghi +4 more
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Ugeskrift for laeger, 2017
Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion.
Firing, Camilla, Bygum, Anette
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Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion.
Firing, Camilla, Bygum, Anette
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